A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583343



Internal ID18711541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:30265044..30277937hg38UCSC Ensembl
Innerchr19:30755951..30768844hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3812894
hg1912894
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1036e212
Supporting Variantsessv9817313, essv9817317, essv9817309, essv9817308, essv9817312, essv9817307, essv9817318, essv9817314, essv9817315, essv9817316
Samples401146US, 400132HN, 401029SD, 400768MN, 401618HR, 401326LI, 401711WS, 400156WT, 400267GD, 400328LM
Known Genes
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3583343
Frequency
Sample Size873
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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